Pathogenesis of morquio A syndrome: An autopsied case reveals systemic storage disorder

Molecular Genetics and Metabolism

Volumn 109, Issue 3, 2013, Pages 301-311

  Yasuda, Eriko ^a,b   Fushimi, Kazunari ^c   Suzuki, Yasuyuki ^c   Shimizu, Katsuji ^c   Takami, Tsuyoshi ^c   Zustin, Jozef ^d   Patel, Pravin ^b   Ruhnke, Kristen ^b   Shimada, Tsutomu ^b   Boyce, Bobbie ^b   Kokas, Terry ^b   Barone, Carol ^a   Theroux, Mary ^b   Mackenzie, William ^b   Nagel, Barbara ^e   Ryerse, Jan S ^e   Orii, Kenji E ^f   Iida, Hiroki ^c   Orii, Tadao ^c   Tomatsu, Shunji ^b  

^a KANAZAWA UNIVERSITY   (Japan)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c GIFU UNIVERSITY   (Japan)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f GIFU UNIVERSITY HOSPITAL   (Japan)

Author keywords

Cervical fusion; Chondroitin 6 sulfate; Keratan sulfate; Mucopolysaccharidosis IVA; Pathogenesis

Indexed keywords

CHONDROITIN 6 SULFATE;

ADULT; ADULT RESPIRATORY DISTRESS SYNDROME; AORTA; ARTICLE; BONE DYSPLASIA; BONE MARROW; CASE REPORT; CLINICAL FEATURE; EXTRACELLULAR MATRIX; HEART; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; JOINT LAXITY; KIDNEY; KYPHOSCOLIOSIS; LUMBAR VERTEBRA; LYSOSOME STORAGE DISEASE; MALE; MORQUIO SYNDROME; PIGEON THORAX; PRIORITY JOURNAL; SKELETON MALFORMATION; SPINE FUSION; SPLEEN; STORAGE DISEASE; TESTIS; THYROID GLAND; TRACHEA; VALGUS KNEE; YOUNG ADULT;

COLUMBA; IVA;

EID: 84891371462     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.009     Document Type: Article

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